RS117614122 TCTN2

Health Risk Chr 12:123699821 snv intron variant

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Associated Conditions

Meckel syndrome

type 8

Joubert syndrome 24

Meckel-Gruber syndrome

Joubert syndrome

Meckel syndrome

type 8

Joubert syndrome 24

Meckel-Gruber syndrome

Joubert syndrome

GWAS Studies (4)

Trait	Risk Allele	OR / Beta	P-value	Study
Waist-to-hip ratio adjusted for BMI	—	—	9E-11	PubMed
Waist-hip index	T	β: 0.057	7E-9	PubMed
Waist-to-hip ratio adjusted for BMI	T	β: 0.056	1E-8	PubMed
Waist circumference adjusted for body mass index	—	—	5E-8	PubMed

Population Frequencies

gnomAD ALL

1kG AFR

0.1%

1kG ALL

0.6%

1kG AMR

99%

1kG EAS

100%

1kG EUR

98.1%

1kG SAS

0.3%

Other Variants in TCTN2